Variant report

Variant	rs72911485
Chromosome Location	chr2:189329643-189329644
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189329502..189332485-chr2:189340700..189342982,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10497681	1.00[AFR][1000 genomes]
rs12613370	0.81[ASN][1000 genomes]
rs34711211	0.81[ASN][1000 genomes]
rs35103373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4278900	0.81[ASN][1000 genomes]
rs4292061	0.81[ASN][1000 genomes]
rs6434279	0.90[ASN][1000 genomes]
rs6711599	0.81[ASN][1000 genomes]
rs6723034	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72896867	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72896889	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72900839	1.00[AFR][1000 genomes]
rs72913310	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913357	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913372	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424417	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559636	0.81[ASN][1000 genomes]
rs7579249	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189306600-189339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:189321600-189330000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189321800-189339000	Weak transcription	Fetal Stomach	stomach
5	chr2:189322400-189330400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189326600-189330800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:189327000-189330800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:189328000-189329800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:189328200-189330400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:189328200-189330400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:189328400-189334000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:189328800-189330600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:189329000-189329800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:189329000-189330000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:189329000-189330200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:189329000-189330600	Enhancers	Gastric	stomach
17	chr2:189329000-189330800	Enhancers	Pancreas	Pancrea
18	chr2:189329000-189340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:189329200-189330200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:189329200-189330600	Enhancers	Lung	lung
21	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:189329400-189330000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:189329400-189330600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:189329400-189331000	Enhancers	Ovary	ovary

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